ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
Searchable abstracts of presentations at key conferences in endocrinology
Showing page 1 of results 1 - 10 of about 17 matches for "hughes-claire"
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Growth hormone neurosecretory dysfunction as part of the spectrum of growth hormone deficiency disorders which benefit from growth hormone treatment Silvana Caiulo; Hoong-Wei Gan; Claire R. Hughes; Rakesh Amin; Helen Spoudeas; Catherine Peters; Peter Hindmarsh; Pratik Shah; Me http://www.endocrine-abstracts.org/ea/0051/ea0051p038.htm Published: 2017-10-30
Permanent Neonatal Diabetes Mellitus due to a Novel Homozygous GCK Mutation in a Premature Baby with IUGR and Its Management Nirit Braha; Franco Elisa De; Adam Dawes; Kate Sharples; Abdul Moodambail; Claire Hughes; Sian Ellard; Evelien Gevers http://abstracts.eurospe.org/hrp/0086/hrp0086p1-p212.htm Published: 2016-08-19
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Clinical Phenotype of Patients with MCM4 Mutation Suggests Pubertal Delay in Males in Addition to Adrenal Failure, Absent Adrenarche, and Short Stature in Boys and Girls Claire Hughes; Adrian Clark; Louise Metherell; Colm Costigan http://abstracts.eurospe.org/hrp/0082/hrp0082fc1.2.htm Published: 2014-08-28
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ACTH insensitivity syndromes Adrian Clark; Claire Hughes; Louise Metherell http://www.endocrine-abstracts.org/ea/0020/ea0020s3.2.htm Published: 2009-04-01
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Two novel missense mutations in MRAP (p.Y59D and p.V26A) that lead to late onset Familial Glucocorticoid Deficiency (FGD) type 2 Claire Hughes; Teng-Teng Chung; Adrian Clark; Louise Metherell http://www.endocrine-abstracts.org/ea/0023/ea0023p16.htm Published: 2009-11-01
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An atypical case of familial glucocorticoid deficiency without pigmentation caused by coexistent homozygous mutations in MC2R (T152K) and MC1R (R160W) Claire Hughes; Serap Turan; Zeynep Atay; Tulay Guran; Abdullah Bereket; Adrian Clark; Louise Metherell http://www.endocrine-abstracts.org/ea/0025/ea0025p301.htm Published: 2011-04-01
MCM4 mutation causes a novel DNA replication disorder associated with short stature and adrenal failure Claire Hughes; Leonardo Guasti; Eirini Meimaridou; Chen-Hua Chaung; John Schimenti; Peter King; Colm Costigan; Adrian Clark; Lou http://www.endocrine-abstracts.org/ea/0027/ea0027oc2.3.htm Published: 2011-11-01
Twenty novel mutations in nicotinamide nucleotide transhydrogenase (NNT) causing FGD Lou Metherell; Eirini Meimaridou; Julia Kowalczyk; Leo Guasti; Claire Hughes; Nicholas Mann; Ritwik Banerjee; Peter King; Adrian http://www.endocrine-abstracts.org/ea/0027/ea0027oc1.6.htm Published: 2011-11-01
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Familial glucocorticoid deficiency: an update Adrian J L Clark; Claire Hughes; Eirini Meimaridou; Lou Metherell http://www.endocrine-abstracts.org/ea/0027/ea0027s16.htm Published: 2011-11-01
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A mutation in thioredoxin reductase 2 (TXNRD2) is associated with a predominantly adrenal phenotype in humans Rathi Prasad; Claire Hughes; Li Chan; Catherine Peters; Nisha Nathwani; Adrian Clark; Helen Storr; Louise Metherell http://www.endocrine-abstracts.org/ea/0031/ea0031oc2.5.htm Published: 2013-03-01
Event series: --All Event Series-- European Congress of Endocrinology British Endocrine Societies (pre 2005) Society for Endocrinology Annual Meeting Society for Endocrinology BES BSPED Annual Meeting Hammersmith Hospital ESE Basic Endocrinology Course World Congress on Clinical Trials in Diabetes Androgens Biannual Meeting UKINETS Annual Conference Theranostics World Congress Endocrine Update Obesity Update Nuclear Receptors Belgian Endocrine Society Meeting EYES Meeting
Volume or Conference --All Volumes -- UKINETS2019 BSPED2019 SFEBES2019 BES2019 EYES2019 ECE2019 EU2019 OU2019 UKINETS2018 SFEBES2018 BSPED2018 BES2018 ECE2018 SFEEU2018 NuclearReceptors2018 OU2018 UKINETS2017 BSPED2017 SFEBES2017 ECE2017 SFEEU2017 UKINETS2016 WCTD2016 BSPED2016 SFEBES2016 Theranostics2016 Androgens2016 ECE2016 ESEBEC2016 BSPED2015 SFEBES2015 ECE2015 BSPED2014 ECE2014 SFEBES2014 BSPED2013 ECE2013 SFEBES2013 BSPED2012 ICEECE2012 SFEBES2012 BSPED2011 ECE2011 SFEBES2011 BSPED2010 ECE2010 SFEBES2009 BSPED2009 ECE2009 SFEBES2009 MES2008 BSPED2008 ECE2008 SFEBES2008 ECE2007 SFEBES2007 SFE2006 ECE2006 SFE2005 BES2005 SFE2004 BES2004 SFE2003 BES2003 SFE2002 BES2002 SFE2001
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